Proteus syndrome


Proteus syndrome is a rare disorder characterized by bone and skin malformations and a variety of other symptoms. The malformations result from tissue overgrowth, which can affect the bones, skin, or any other part of the body. The underlying cause of Proteus syndrome is unclear, but the condition is present from birth (congenital).
Symptoms consistent with Proteus syndrome were first described by Dr. M. Cohen, Jr. in 1979. Because patients with Proteus syndrome suffer from a wide range of malformations, the disease was named after the Greek shape-shifting deity. The disease is also known as Wiedemann's dysmelia syndrome, after Dr. H. Wiedemann, who coined the term "Proteus syndrome" in 1983.
Joseph Merrick, the patient depicted in the movie "The Elephant Man," was initially believed to have neurofibromatosis, a genetic disorder that causes tumors, skin changes, and bone deformities. However, it is now widely believed that the patient actually suffered from a severe case of Proteus syndrome.
Tissue overgrowth typically begins in infancy and can affect any part of the body. Proteus syndrome is an extremely variable condition. Disease severity is difficult to predict, and the symptoms may range from mild to severe. Connective tissue, bone, skin, and feet are commonly affected and visible effects may be different on the two sides of the body. Symptoms can also include improperly formed blood vessels, tumors, and lung disease.
It is unknown how many individuals have Proteus syndrome because not all cases are reported. It is very rare, with an estimated 100 to 200 individuals currently affected worldwide.
The long-term outcome of Proteus syndrome is not known. Life expectancy varies from person to person. In cases in which the critical organs are affected, complications of Proteus syndrome may be severe. Other cases may be mild, however, and patients may be otherwise healthy.

Related Terms

Elephant man, gigantism, hemihypertrophy, hyperostosis, hypertrophy, macrocephaly, plantar hyperplasia, Wiedemann's dysmelia syndrome, Wiedemann's syndrome.